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We study the stochastic dynamics of the two most common patterns in cancer initiation and progression: loss-of-function and gain-of-function mutations. We consider three stochastic models of cell populations with a constant size: a mass-action model, a spatial model and a hierarchical model. For...
Whereas gain-of-function PRSS1 missense mutations cause chronic pancreatitis through a negative effect on trypsin lysis and a positive effect on trypsinogen autoactivation, duplication and triplication copy number mutations of the trypsinogen locus cause the disease through a gene-dosage effect. By ...
gain-and loss-of-function mutations in zat10 enhance the tolerance of plants to abiotic stress R Mittler,Y Kim,L Song,... 被引量: 0发表: 2017年 Systemic and Intracellular Responses to Photooxidative Stress in Arabidopsis As the sun tracks daily through the sky from east to west, different...
Our data show that proper activity of peroxisomal β-oxidation is essential for glial survival, and both loss and gain of ACOX1 severely affect glial function in flies and humans, albeit via different pathways. Results Loss-of-Function Mutations in ACOX1 in Flies Cause Semi-lethality To assess...
Human Disease Phenotypes Associated with Loss and Gain of Function Mutations in STAT2: Viral Susceptibility and Type I Interferonopathy 来自 EBSCO 喜欢 0 阅读量: 44 作者:CJA Duncan,S Hambleton 摘要: STAT2 is distinguished from other STAT family members by its exclusive involvement in type I ...
While there has been much focus on how mutations can disrupt protein structure and thus cause a loss of function (LOF), alternative mechanisms, specifically dominant-negative (DN) and gain-of-function (GOF) effects, are less understood. Here, we investigate the protein-level effects of ...
Conclusions: Both loss of TDP-43 and dominant missense mutations in TDP-43 can cause motor dysfunction suggesting a complex combination of toxic gain of function and partial loss of function may underlie TDP-43 related motor phenotypes. Mutated TDP-43 causes neurodegeneration linked to abnormal TDP...
A novel variant Glanzmann thrombasthenia due to co-inheritance of a loss- and a gain-of-function mutation of ITGB3: evidence of a dominant effect of gain-o... Bury,Loredana,Zetterberg,... - 《Haematologica》 被引量: 0发表: 2018年 Glanzmann thrombasthenia: A review of ITGA2B and ITGB3...
Certain mutations in the Deadend1 (Dnd1) gene are the most potent modifiers of testicular germ cell tumor (TGCT) susceptibility in mice and rats. In the 129 family of mice, the Dnd1 Ter mutation significantly increases occurrence of TGCT-affected males.